5 citations
,
July 2022 in “Orphanet journal of rare diseases” RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.
14 citations
,
March 2014 in “Journal of The American Academy of Dermatology” Symmetrical Acrokeratoderma (SAK) may be a unique skin condition in China, lacking specific treatment and needing long-term monitoring.
10 citations
,
October 2011 in “Dermatologica Sinica” A patient with PPP had rare skin reactions to adalimumab, which improved after stopping smoking and continuing acitretin.
5 citations
,
December 2017 in “The Journal of Dermatology” A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
3 citations
,
August 2010 in “Anais brasileiros de dermatologia/Anais Brasileiros de Dermatologia” A rare genetic disease caused severe, worsening hair loss from early childhood with poor treatment results.
August 2018 in “Journal of The American Academy of Dermatology” A 5-year-old girl with a rare skin disorder was effectively treated with skin creams instead of oral medication.
3 citations
,
January 2019 in “Journal of Dermatology” The p.P25L mutation in the KRT5 gene causes a rare skin condition that worsens over time and may lead to hair loss starting in young adulthood.
January 2018 in “Springer eBooks” PDE inhibitors, especially PDE4 inhibitors like apremilast, are effective for certain inflammatory skin conditions but have side effects and can be costly.
128 citations
,
September 2011 in “British Journal of Dermatology” Obesity is linked to various skin problems and may increase the risk of skin cancer.
48 citations
,
October 2011 in “Sports Medicine” Ice-skating athletes often have skin problems due to cold, infections, and inflammation, needing careful treatment and prevention.
41 citations
,
June 2010 in “Clinics in Dermatology” Smoking harms skin health, causing slower wound healing, more wrinkles, and worsening some skin conditions, but may protect against certain others.
6 citations
,
February 2014 in “Actas Dermo-Sifiliográficas” Obesity is linked to skin conditions like acanthosis nigricans and skin tags, which may indicate high insulin levels.
6 citations
,
January 2012 in “Journal of Biomedicine and Biotechnology” Ustekinumab might work for severe psoriasis, but more research is needed to be sure.
3 citations
,
July 2004 in “SKINmed/Skinmed” A 4-year-old girl was diagnosed with erythrokeratodermia variabilis after other treatments failed.
1 citations
,
June 2022 in “Curēus” Early detection and multidisciplinary treatment are crucial for managing Papillon-Lefévre syndrome.
March 2026 in “Frontiers in Medicine” New therapies for rare skin diseases show promise but need more research.
A rare skin condition in a 17-year-old was diagnosed late, stressing the need for careful evaluation and genetic testing.
December 2016 in “Journal of evolution of medical and dental sciences” Skin problems are common in thyroid disorders, with dry skin in hypothyroidism and warm, soft skin in hyperthyroidism.
The chapter explains that there are many genetic skin disorders affecting skin cell formation, including both common and rare types.
6 citations
,
July 2011 in “British Journal of Dermatology” A man with KID syndrome developed a rare cancer in a long-term skin infection.
81 citations
,
June 2012 in “European journal of human genetics” Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
10 citations
,
April 2020 in “Clinics in Dermatology” Biotin supplements improved skin and hair problems in a girl with biotinidase deficiency.
5 citations
,
May 2017 in “Journal of dermatological science” The combined treatment effectively managed severe skin issues in Olmsted syndrome.
October 2011 in “Journal of dermatology” A man with a rare skin condition and a new gene mutation developed high calcium levels due to his treatment.
September 2024 in “Journal of the American Academy of Dermatology” The patient responded well to treatment with no disease progression.
11 citations
,
January 2018 in “Jaypee's international journal of clinical pediatric dentistry” Papillon-Lefèvre Syndrome causes early tooth loss and skin issues, needing early dental diagnosis.
Spiny keratoderma is a rare skin condition with small spines on palms and soles, possibly linked to abnormal hair formation.
17 citations
,
April 1997 in “American Journal of Dermatopathology” PC-associated alopecia has unique microscopic features.
November 2025 in “Indian Dermatology Online Journal” Clouston syndrome can lead to skin cancer, so monitoring is crucial.
October 2024 in “Frontiers in Oncology” A new gene mutation linked to Olmsted syndrome may increase cancer risk, suggesting the need for ongoing patient monitoring.